BDgene

SNP Report

Basic Info
Name rs2812393 dbSNP Ensembl
Location chr1:231777927 - 231777927(1)
Variant Alleles G/C
Ancestral Allele C
Minor Allele G
Minor Allele Frequence 0.378594
Functional Annotation intron_variant; NMD_transcript_variant.
Consequence to Transcript intron_variant(ENST00000295051, ENST00000366632, ENST00000366633, ENST00000366636, ENST00000366637, ENST00000422590, ENST00000439617, ENST00000535944, ENST00000535983, ENST00000537876, ENST00000539444, ENST00000602281, ENST00000602567, ENST00000602634, ENST00000602700, ENST00000602713, ENST00000602822, ENST00000602873, ENST00000602885, ENST00000602956, ENST00000602962, ENST00000620189, ENST00000622252, ENST00000628350); NMD_transcript_variant(ENST00000295051, ENST00000366632, ENST00000422590, ENST00000535944, ENST00000602567, ENST00000602634, ENST00000602700, ENST00000602713, ENST00000602822, ENST00000602885, ENST00000602956, ENST00000602962)
No. of Studies 3 (Positive: 1; Negative: 2; Trend: 0)
Source Literature
Overlap with SZ? YES
Overlap with MDD? NO

SNP related studies (count: 3)
Reference Allele Change Risk Allele Statistical Values Author Comments Result Category
Ram Murthy, A., 2012 BPAD patients: P-value=0.135, P-value=0.122 for females, P-v...... BPAD patients: P-value=0.135, P-value=0.122 for females, P-value=0.532 for males; BPAD&SCZ: P-value=0.073, P-value=0.028 for females, P-value=0.668 for males More... Moderate associations were also observed in females for rs28...... Moderate associations were also observed in females for rs2812393 (SCZ, P=0.026; BPAD&SCZ, P=0.028). More... Positive
Thomson, P. A.,2005(a) Single-Marker Analysis: allele frequency, for BP, P-value = ...... Single-Marker Analysis: allele frequency, for BP, P-value = 0.73 More... No significant association was observed. No significant association was observed. Negative
Yosifova, A.,2009 C/G Allelic association: P-value = 0.78 Allelic association: P-value = 0.78 No significant association was observed No significant association was observed Negative

SNP related genes (count: 2)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
TSNAX translin-associated factor X 1q42.2 4(3/1/0)
DISC1 disrupted in schizophrenia 1 1q42.1 18(10/7/1)

SNPs in LD with rs2812393 (count: 3) View in gBrowse (chr1:231775265..231777927 )
The LD data used here is based on HapMap rel#27. LD SNP pairs were selected with a threshold r2<=0.8.

Literature-origin SNPs (count: 0)

LD-proxies (count: 3)


Overlap with SZ from cross-disorder studies (count: 2)
Reference Statistical Result Description Result Category
Ram Murthy, A., 2012 SZ patients: P-value=0.093, P-value=0.026 for females, P-value=0.775 for males; BPAD&SCZ: P-value=0.073, P-value=0.028 for females, P-value=0.668 for males Moderate associations were also observed in females for rs2812393 (SCZ, P=0.026; BPAD&SCZ, P=0.028). Positive
Thomson, P. A.,2005(a) Single-Marker Analysis:allele frequency, for SZ, P-value = 0.6 No significant association was observed. Negative

Overlap with MDD from cross-disorder studies (count: 0)